4190 lines
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- *232050 - PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*232050</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/232050">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000114054;t=ENST00000251654" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=5096" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=232050" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000114054;t=ENST00000251654" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000532,NM_001178014,XM_011512873" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000532" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=232050" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01982&isoform_id=01982_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/PCCB" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/189664,189666,189669,312812,455713,4127990,10441899,15559227,17390013,30268202,31657208,62087598,119599522,119599523,119599524,119943100,124106304,221040706,221044116,221044434,295821216,767926868,1050811775,2462590132,2462590134" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P05166" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5096" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000114054;t=ENST00000251654" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=PCCB" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=PCCB" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+5096" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/PCCB" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:5096" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5096" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr3&hgg_gene=ENST00000251654.9&hgg_start=136250340&hgg_end=136330169&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8654" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/pccb" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=232050[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=232050[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PCCB/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000114054" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PCCB" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PCCB" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PCCB" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.uchsc.edu/cbs/pcc/pccmain.htm" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PCCB&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA32993" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:8654" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1914154" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/PCCB#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1914154" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5096/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=5096" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00018701;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-2467" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:232050" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5096" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PCCB&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 69080001<br />
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<strong>ICD10CM:</strong> E71.121<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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232050
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
pccBC COMPLEMENTATION GROUP
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PCCB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PCCB</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/706?start=-3&limit=10&highlight=706">3q22.3</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:136250340-136330169&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">3:136,250,340-136,330,169</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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|
|
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/706?start=-3&limit=10&highlight=706">
|
|
3q22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Propionicacidemia
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/606054"> 606054 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<p>Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids. Propionyl-CoA carboxylase (PCC), composed of alpha and beta subunits, catalyzes the first step in the catabolism of propionyl-CoA. The alpha subunit is encoded by the PCCA gene (<a href="/entry/232000">232000</a>) and the beta subunit by the PCCB gene. Cells from patients with propionic acidemia (<a href="/entry/606054">606054</a>) who have mutations in the PCCB gene fall into 2 complementation subgroups, pccB and pccC. Mutations in the pccB subgroup occur in the N terminus of the beta subunit, which includes the biotin-binding site, whereas mutations in the pccC subgroup occur in the C terminus (summary by <a href="#3" class="mim-tip-reference" title="Fenton, W. A., Gravel, R. A., Rosenblatt, D. S. <strong>Disorders of propionate and methylmalonate metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. P. 2176."None>Fenton et al., 2001</a>).</p>
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<p><a href="#9" class="mim-tip-reference" title="Lamhonwah, A.-M., Leclerc, D., Loyer, M., Clarizio, R., Gravel, R. A. <strong>Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta-subunit.</strong> Genomics 19: 500-505, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188292</a>] [<a href="https://doi.org/10.1006/geno.1994.1099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188292">Lamhonwah et al. (1994)</a> cloned a full-length cDNA encoding the beta subunit of human PCC. The open reading frame encoded a pre-beta polypeptide of 539 amino acids (58,205 Da). The cDNA was introduced into an expression vector and microinjected into the nucleus or, as ribotranscripts, into the cytoplasm of fibroblast lines from propionic acidemia patients with defects of the beta subunit. Restoration of function was demonstrated by autoradiography of PCC-dependent (14)C-propionate incorporation into cellular protein. These results confirmed the completeness of the clone and demonstrated the capacity for the microinjected material to be transported into mitochondria and assembled with endogenously derived alpha subunits to form functional PCC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Rodriguez-Pombo, P., Hoenicka, J., Muro, S., Perez, B., Perez-Cerda, C., Richard, E., Desviat, L. R., Ugarte, M. <strong>Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.</strong> Am. J. Hum. Genet. 63: 360-369, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683601</a>] [<a href="https://doi.org/10.1086/301970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683601">Rodriguez-Pombo et al. (1998)</a> described the genomic organization of the coding sequence of the human PCCB gene. The PCCB gene consists of 15 exons of 57 to 183 bp. All splice sites are consistent with the gt/ag rule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#27" class="mim-tip-reference" title="Yang-Feng, T. L., Kraus, J. P., Francke, U. <strong>Gene for the beta-subunit of propionyl CoA carboxylase (PCCB) is located on the long arm of human chromosome 3 (3q13.3-q22). (Abstract)</strong> Cytogenet. Cell Genet. 40: 783 only, 1985."None>Yang-Feng et al. (1985)</a> used rat cDNA probes to assign the human PCCB gene to 3q13.3-q22 by in situ hybridization and corroborated the assignment to chromosome 3 by Southern blot analysis of somatic cell hybrid DNAs. Assignment of PCCB to chromosome 3 was also reported by <a href="#7" class="mim-tip-reference" title="Lamhonwah, A.-M., Barankiewicz, T. J., Willard, H. F., Mahuran, D. J., Quan, F., Gravel, R. A. <strong>Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.</strong> Proc. Nat. Acad. Sci. 83: 4864-4868, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460076</a>] [<a href="https://doi.org/10.1073/pnas.83.13.4864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3460076">Lamhonwah et al. (1986)</a>. <a href="#12" class="mim-tip-reference" title="Levy, E. R., Rack, K., Buckle, V. J. <strong>Refined localization of PCCB to 3q21-q22. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1878 only, 1991."None>Levy et al. (1991)</a> refined the localization of the PCCB gene to 3q21-q22 by demonstrating the loss of a polymorphic band in a clonal population of blast cells from an individual suffering from myelodysplastic syndrome who had been found to have an interstitial deletion of 3q21-q25. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3460076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Two main complementation groups for propionyl-CoA carboxylase deficiency were demonstrated by <a href="#5" class="mim-tip-reference" title="Gravel, R. A., Lam, K.-F., Scully, K. J., Hsia, Y. E. <strong>Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.</strong> Am. J. Hum. Genet. 29: 378-388, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/195466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">195466</a>]" pmid="195466">Gravel et al. (1977)</a> in studies of Sendai virus-induced heterokaryons of mutant fibroblast strains. Three of 7 strains studied fell into a first group. The second group, composed of 4 mutants, was a complex one with intragroup complementation. The complementation groups could not be correlated with patterns of clinical heterogeneity. Although <a href="#5" class="mim-tip-reference" title="Gravel, R. A., Lam, K.-F., Scully, K. J., Hsia, Y. E. <strong>Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.</strong> Am. J. Hum. Genet. 29: 378-388, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/195466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">195466</a>]" pmid="195466">Gravel et al. (1977)</a> referred to the 2 types as pccA and pccC, they are now referred to as pccB and pccC. In a study of heterozygotes from families of the 2 types, <a href="#26" class="mim-tip-reference" title="Wolf, B., Rosenberg, L. E. <strong>Heterozygote expression in propionyl coenzyme A carboxylase deficiency: differences between major complementation groups.</strong> J. Clin. Invest. 62: 931-936, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/711858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">711858</a>] [<a href="https://doi.org/10.1172/JCI109221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="711858">Wolf and Rosenberg (1978)</a> found the expected half-normal level of PCC in type B heterozygotes, whereas type C heterozygotes showed normal levels of the enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=711858+195466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kidd, J. R., Wolf, B., Hsia, Y. E., Kidd, K. K. <strong>Genetics of propionic acidemia in a Mennonite-Amish kindred.</strong> Am. J. Hum. Genet. 32: 236-245, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7386459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7386459</a>]" pmid="7386459">Kidd et al. (1980)</a> studied propionic acidemia of the pccC type in 4 Amish sibships. Three ancestral couples were shared in common by all 8 parents. The authors calculated that the relative likelihoods of the 3 couples as the origin of the mutant allele were 1,539, 278, and 1. The highest relative likelihood was for Jacob Hochstetler and his wife, nee Lorenz. The first symptoms generally appeared in infancy and included vomiting, lethargy, hypotonia, and failure to thrive. Exacerbations can be produced by increased protein intake or acute infection and are characterized by ketoacidosis, hyperglycinemia, hyperglycinuria, and hyperammonemia. Although affected persons who are not placed on protein-restricted diets were thought to develop mental retardation and seizures and die early, experience in the Amish indicates that a milder course may occur. Relatively late onset of symptoms may be related to breast-feeding; breast milk has a lower protein content than formulas or cow's milk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7386459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using cDNA clones coding for the alpha and beta chains as probes, <a href="#8" class="mim-tip-reference" title="Lamhonwah, A.-M., Gravel, R. A. <strong>Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.</strong> Am. J. Hum. Genet. 41: 1124-1131, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3687944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3687944</a>]" pmid="3687944">Lamhonwah and Gravel (1987)</a> found absence of alpha mRNA in 4 of 6 pccA strains and presence of both alpha and beta mRNAs in 3 pccBC, 2 pccB, and 3 pccC mutants. Their data supported the view that pccA patients synthesize a normal beta chain that is rapidly degraded in the absence of complexing with alpha chains. <a href="#25" class="mim-tip-reference" title="Waye, J. S., Gravel, R. A., Willard, H. F. <strong>Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3.</strong> Nucleic Acids Res. 16: 2362 only, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895916</a>] [<a href="https://doi.org/10.1093/nar/16.5.2362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2895916">Waye et al. (1988)</a> described 2 RFLPs in the PCCB gene. Lamhonwah et al. (<a href="#11" class="mim-tip-reference" title="Lamhonwah, A.-M., Troxel, C., Schuster, S., Gravel, R. A. <strong>Molecular basis of intragenic complementation in propionicacidemia: identification of mutations in the pccC complementation group. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A8 only, 1989."None>1989</a>, <a href="#10" class="mim-tip-reference" title="Lamhonwah, A.-M., Troxel, C. E., Schuster, S., Gravel, R. A. <strong>Two distinct mutations at the same site in the PCCB gene in propionicacidemia.</strong> Genomics 8: 249-254, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2249848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2249848</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90279-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2249848">1990</a>) provided evidence in support of their hypothesis that intragenic complementation of subgroups pccB and pccC (<a href="#20" class="mim-tip-reference" title="Saunders, M., Sweetman, L., Robinson, B., Roth, K., Cohn, R., Gravel, R. A. <strong>Biotin-response organicaciduria: multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.</strong> J. Clin. Invest. 64: 1695-1702, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/115903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">115903</a>] [<a href="https://doi.org/10.1172/JCI109632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="115903">Saunders et al., 1979</a>) is due to the fact that patients from the pccC subgroup produce enzymatically active but unstable beta subunits which are capable of complementing enzymatically inactive pccB subunits in fibroblast fusion experiments. In a patient from the pccC complementation group whose DNA was examined by direct sequencing of PCR-amplified reverse transcripts of mRNA and amplified genomic DNA, one mutation inherited from the father was an in-frame 3-bp deletion that removed an amino acid in the beta subunit. The second mutation, inherited from the mother, was a deletion of 14 bp and an addition of 12 bp of new sequence. The net effect of the mother's mutation was generation of the frameshift and a downstream stop codon, consistent with the finding of only the father's sequence in the patient's mRNA. The father's mutation, compatible with successful mRNA and protein synthesis, was apparently responsible for the synthesis of a beta subunit that participated in the intragenic complementation with the pccB group. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=115903+2249848+2895916+3687944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Tahara, T., Kraus, J. P., Rosenberg, L. E. <strong>An unusual insertion/deletion in the gene for the beta-subunit of propionyl CoA carboxylase: a common mutation in propionic acidemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A222 only, 1989."None>Tahara et al. (1989)</a> found an unusual mutation of the PCCB gene in 3 BC and 5 of 9 C patients: a unique insertion/deletion replacing 14 bp in the control with 12 bp of unrelated sequence in the mutants. <a href="#23" class="mim-tip-reference" title="Tahara, T., Kraus, J. P., Rosenberg, L. E. <strong>An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.</strong> Proc. Nat. Acad. Sci. 87: 1372-1376, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2154743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2154743</a>] [<a href="https://doi.org/10.1073/pnas.87.4.1372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2154743">Tahara et al. (1990)</a> pointed out that the mutation results in elimination of an MspI restriction site, a 2-bp deletion, a frameshift, and a stop codon in the new frame about 100 amino acid residues proximal to the normal carboxyl terminus. This unique mutation was found in 8 of 28 mutant alleles carried by 14 unrelated Caucasian patients. Hybridization studies with amplified genomic DNAs using a mutant allele-specific oligonucleotide showed that the inserted 12 bp did not originate in a 1-kb region around the mutation. In the course of their studies, <a href="#23" class="mim-tip-reference" title="Tahara, T., Kraus, J. P., Rosenberg, L. E. <strong>An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.</strong> Proc. Nat. Acad. Sci. 87: 1372-1376, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2154743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2154743</a>] [<a href="https://doi.org/10.1073/pnas.87.4.1372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2154743">Tahara et al. (1990)</a> identified another mutation in the same exon: a 3-bp in-frame deletion that eliminated 1 of 2 isoleucine codons immediately preceding the MspI site. Two unrelated patients were compound heterozygotes for this single-codon deletion and for the insertion/deletion described above. In 3 of 8 Japanese patients with defects in the beta subunit, <a href="#14" class="mim-tip-reference" title="Ohura, T., Miyabayashi, S., Narisawa, K., Tada, K. <strong>Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.</strong> Hum. Genet. 87: 41-44, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2037281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2037281</a>] [<a href="https://doi.org/10.1007/BF01213089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2037281">Ohura et al. (1991)</a> found a unique 2.7-kb band by probing DNA digested with MspI using PCCB cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2154743+2037281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gravel, R. A., Akerman, B. R., Lamhonwah, A.-M., Loyer, M., Leon-del-Rio, A., Italiano, I. <strong>Mutations participating in interallelic complementation in propionic acidemia.</strong> Am. J. Hum. Genet. 55: 51-58, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8023851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8023851</a>]" pmid="8023851">Gravel et al. (1994)</a> defined mutations that are involved in interallelic complementation and showed that they are located in domains that can interact between beta subunits in the PCC heteromer to restore enzymatic function. On the basis of sequence homology with the Propionibacterium shermanii transcarboxylase 12S subunit, they suggested that the pccC domain, defined by ile408 and arg410, may involve the propionyl-CoA binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8023851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Rodriguez-Pombo, P., Hoenicka, J., Muro, S., Perez, B., Perez-Cerda, C., Richard, E., Desviat, L. R., Ugarte, M. <strong>Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.</strong> Am. J. Hum. Genet. 63: 360-369, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683601</a>] [<a href="https://doi.org/10.1086/301970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683601">Rodriguez-Pombo et al. (1998)</a> characterized mutations causing propionic acidemia in 29 unrelated patients, 21 from Spain and 8 from Latin America. The mutation was defined in 56 of the 58 mutant chromosomes of the 29 unrelated patients, with detection of 16 different mutations. The mutation spectrum included 1 insertion/deletion, 2 insertions, 10 missense mutations, 1 nonsense mutation, and 2 splicing defects. Thirteen of these mutations had not previously been described. The mutation profile found in the chromosomes from Latin American patients basically resembled that of the Spanish patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Ugarte, M., Perez-Cerda, C., Rodriguez-Pombo, P., Desviat, L. R., Perez, B., Richard, E., Muro, S., Campeau, E., Ohura, T., Gravel, R. A. <strong>Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.</strong> Hum. Mutat. 14: 275-282, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10502773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10502773</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10502773">Ugarte et al. (1999)</a> reviewed mutations in the PCCA and PCCB genes. A total of 29 mutations had been reported in the PCCB gene, mostly missense mutations and a variety of splicing defects. Among Caucasians, 1218del14ins12 (<a href="#0003">232050.0003</a>) is the most frequent, although 1170insT (<a href="#0004">232050.0004</a>) and E168K (<a href="#0005">232050.0005</a>) are also prevalent specifically in the Spanish and Latin American populations. In Japanese, T428I (<a href="#0006">232050.0006</a>) and R410W (<a href="#0001">232050.0001</a>) appear to be the most common. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10502773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Muro, S., Perez-Cerda, C., Rodriguez-Pombo, P., Perez, B., Briones, P., Ribes, A., Ugarte, M. <strong>Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.</strong> J. Med. Genet. 36: 412-414, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10353789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10353789</a>]" pmid="10353789">Muro et al. (1999)</a> reported prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue in a family where the proband had previously been shown to carry the 1170insT mutation (<a href="#0004">232050.0004</a>) and a private leu519-to-pro (L519P) mutation in the PCCB gene. <a href="#13" class="mim-tip-reference" title="Muro, S., Perez-Cerda, C., Rodriguez-Pombo, P., Perez, B., Briones, P., Ribes, A., Ugarte, M. <strong>Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.</strong> J. Med. Genet. 36: 412-414, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10353789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10353789</a>]" pmid="10353789">Muro et al. (1999)</a> also assessed carrier status in this family by DNA analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10353789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chloupkova, M., Maclean, K. N., Alkhateeb, A., Kraus, J. P. <strong>Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.</strong> Hum. Mutat. 19: 629-640, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12007220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12007220</a>] [<a href="https://doi.org/10.1002/humu.10085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12007220">Chloupkova et al. (2002)</a> characterized 13 mutations in the PCCB gene associated with propionic acidemia. They found a functional dichotomy with 7 mutations capable of varying degrees of assembly but forming catalytically inactive PCC proteins. Other PCCB mutants that were PCC-deficient in patient-derived fibroblasts were found to be capable of expressing wildtype level PCC activity when assembled in a chaperone-assisted E. coli expression system. The result indicated that these mutations exert their pathogenic effect due to an inability to assemble correctly in patients' cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12007220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 10 patients with propionic acidemia, <a href="#2" class="mim-tip-reference" title="Desviat, L. R., Clavero, S., Perez-Cerda, C., Navarrete, R., Ugarte, M., Perez, B. <strong>New splicing mutations in propionic acidemia.</strong> J. Hum. Genet. 51: 992-997, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17051315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17051315</a>] [<a href="https://doi.org/10.1007/s10038-006-0068-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17051315">Desviat et al. (2006)</a> identified 4 different PCCA splice site mutations and 3 different PCCB splice site mutations. The authors emphasized the different molecular effects of splicing mutations and the possible phenotypic consequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17051315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In cultured cells, <a href="#18" class="mim-tip-reference" title="Rincon, A., Aguado, C., Desviat, L. R., Sanchez-Alcudia, R., Ugarte, M., Perez, B. <strong>Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.</strong> Am. J. Hum. Genet. 81: 1262-1270, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17966092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17966092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17966092[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/522376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17966092">Rincon et al. (2007)</a> used antisense morpholino oligonucleotides (AMOs) to restore normal splicing caused by intronic molecular defects in methylmalonic acidemia (<a href="/entry/251000">251000</a>) and propionic acidemia (<a href="/entry/606054">606054</a>). One of the insertions studied involved the PCCB gene (see <a href="#0009">232050.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17966092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=232050[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p><a href="#21" class="mim-tip-reference" title="Tahara, T., Kraus, J. P., Ohura, T., Rosenberg, L. E., Fenton, W. A. <strong>Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.</strong> J. Inherit. Metab. Dis. 16: 353-360, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8411997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8411997</a>] [<a href="https://doi.org/10.1007/BF00710282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8411997">Tahara et al. (1993)</a> identified a C-to-T transition at nucleotide 1240, which replaced arg412 with tryptophan in the predicted amino acid sequence. This change was found in 3 patients with propionic acidemia (<a href="/entry/606054">606054</a>), all Japanese, of whom 2 were sibs; all were homozygous for the transition. The mutation was in the same exon as the insertion/deletion described by <a href="#23" class="mim-tip-reference" title="Tahara, T., Kraus, J. P., Rosenberg, L. E. <strong>An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.</strong> Proc. Nat. Acad. Sci. 87: 1372-1376, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2154743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2154743</a>] [<a href="https://doi.org/10.1073/pnas.87.4.1372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2154743">Tahara et al. (1990)</a> and was detected only in Caucasian patients, among whom it represented 11 of 34 mutant alleles. (This mutation was described as a C-to-T transition at nucleotide 1228 in exon 12, causing an ARG410TRP substitution, by <a href="#24" class="mim-tip-reference" title="Ugarte, M., Perez-Cerda, C., Rodriguez-Pombo, P., Desviat, L. R., Perez, B., Richard, E., Muro, S., Campeau, E., Ohura, T., Gravel, R. A. <strong>Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.</strong> Hum. Mutat. 14: 275-282, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10502773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10502773</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10502773">Ugarte et al. (1999)</a>.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2154743+10502773+8411997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Japanese patient with propionic acidemia (<a href="/entry/606054">606054</a>), <a href="#16" class="mim-tip-reference" title="Ohura, T., Ogasawara, M., Ikeda, H., Narisawa, K., Tada, K. <strong>The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.</strong> Hum. Genet. 92: 397-402, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8225321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8225321</a>] [<a href="https://doi.org/10.1007/BF01247343" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8225321">Ohura et al. (1993)</a> found deletion of 101 bp between nucleotides 1199 and 1299 of the mRNA. Analysis of PCR products of genomic DNA showed an 8-bp deletion that started with the third base of the intron and extended downstream of the deleted exon. The 5-prime and 3-prime splice junctions of the preceding intron and the 3-prime splice signal of the following intron were normal. The deletion of nucleotides 3-10 resulted in skipping of the preceding intron. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8225321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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PCCB, 14-BP DEL, 12-BP INS, NT1218
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397507445 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397507445;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397507445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397507445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032124 OR RCV000370248 OR RCV002513290 OR RCV003398582" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032124, RCV000370248, RCV002513290, RCV003398582" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032124...</a>
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<p><a href="#19" class="mim-tip-reference" title="Rodriguez-Pombo, P., Hoenicka, J., Muro, S., Perez, B., Perez-Cerda, C., Richard, E., Desviat, L. R., Ugarte, M. <strong>Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.</strong> Am. J. Hum. Genet. 63: 360-369, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683601</a>] [<a href="https://doi.org/10.1086/301970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683601">Rodriguez-Pombo et al. (1998)</a> found that the most frequent mutation causing PCCB deficiency (<a href="/entry/606054">606054</a>) in Spain and Latin America was an insertion/deletion of 12 bp and 14 bp following nucleotide 1218 (c.1218del14ins12). This mutation accounted for 31% of the alleles from Spanish patients and 47% of the alleles from Latin American patients. The ins/del caused a frameshift and a premature stop codon in the coding sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 PROPIONIC ACIDEMIA</strong>
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PCCB, 1-BP INS, 1170T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776758 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776758;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012794 OR RCV001576958" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012794, RCV001576958" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012794...</a>
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<p><a href="#19" class="mim-tip-reference" title="Rodriguez-Pombo, P., Hoenicka, J., Muro, S., Perez, B., Perez-Cerda, C., Richard, E., Desviat, L. R., Ugarte, M. <strong>Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.</strong> Am. J. Hum. Genet. 63: 360-369, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683601</a>] [<a href="https://doi.org/10.1086/301970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683601">Rodriguez-Pombo et al. (1998)</a> found that the second most frequent mutation in patients with propionic acidemia (<a href="/entry/606054">606054</a>) in Spain, accounting for 16.7% of mutant PCCB alleles, was insertion of a thymine after nucleotide 1170 of the cDNA. This mutation was found in a Chilean patient in the Latin American group (frequency 6%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0005 PROPIONIC ACIDEMIA</strong>
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</h4>
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PCCB, GLU168LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121964960 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964960;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121964960?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121964960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121964960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012795</a>
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<span class="mim-text-font">
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<p>In 14.3% of the mutant alleles of Spanish patients with propionic acidemia (<a href="/entry/606054">606054</a>) and in 25% of the mutant alleles of Latin American patients, <a href="#19" class="mim-tip-reference" title="Rodriguez-Pombo, P., Hoenicka, J., Muro, S., Perez, B., Perez-Cerda, C., Richard, E., Desviat, L. R., Ugarte, M. <strong>Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.</strong> Am. J. Hum. Genet. 63: 360-369, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9683601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9683601</a>] [<a href="https://doi.org/10.1086/301970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9683601">Rodriguez-Pombo et al. (1998)</a> found a G-to-A transition at nucleotide 502 of the PCCB gene, resulting in a glu168-to-lys amino acid substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9683601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 PROPIONIC ACIDEMIA</strong>
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</span>
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</h4>
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PCCB, THR428ILE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs111033542 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033542;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs111033542?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs111033542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs111033542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012796" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012796" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012796</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In Japanese patients with propionic acidemia (<a href="/entry/606054">606054</a>), <a href="#15" class="mim-tip-reference" title="Ohura, T., Narisawa, K., Tada, K. <strong>Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.</strong> J. Inherit. Metab. Dis. 16: 863-867, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8295402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8295402</a>] [<a href="https://doi.org/10.1007/BF00714279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8295402">Ohura et al. (1993)</a> identified a 1283C-T change in the PCCB gene, resulting in a thr428-to-ile substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8295402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 PROPIONIC ACIDEMIA</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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PCCB, 3-BP INS, 1540CCC
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs202247821 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs202247821;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs202247821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs202247821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012797" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012797" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012797</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>Propionic acidemia (<a href="/entry/606054">606054</a>) has a high prevalence among Inuits in Greenland. <a href="#17" class="mim-tip-reference" title="Ravn, K., Chloupkova, M., Christensen, E., Brandt, N. J., Simonsen, H., Kraus, J. P., Nielsen, I. M., Skovby, F., Schwartz, M. <strong>High incidence of propionic acidemia in Greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.</strong> Am. J. Hum. Genet. 67: 203-206, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 270 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10820128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10820128</a>] [<a href="https://doi.org/10.1086/302971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10820128">Ravn et al. (2000)</a> found a 3-bp insertion, 1540insCCC, in homozygous form in 3 patients and in compound heterozygous form in 1 patient. They found a carrier frequency of 5% for the heterozygous state in the Greenlandic Inuit population. Analysis of alleles of a closely linked marker, D3S2453, showed a high degree of linkage disequilibrium with one specific allele, suggesting that this was a founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10820128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 PROPIONIC ACIDEMIA</strong>
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PCCB, TYR435CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121964961 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964961;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121964961?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121964961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121964961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012798" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012798" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012798</a>
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</span>
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</div>
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<p>In a neonatal screen of more than 130,000 Japanese newborns, <a href="#28" class="mim-tip-reference" title="Yorifuji, T., Kawai, M., Muroi, J., Mamada, M., Kurokawa, K., Shigematsu, Y., Hirano, S., Sakura, N., Yoshida, I., Kuhara, T., Endo, F., Mitsubuchi, H., Nakahata, T. <strong>Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.</strong> Hum. Genet. 111: 161-165, 2002. Note: Erratum: Hum. Genet. 112: 100 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12189489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12189489</a>] [<a href="https://doi.org/10.1007/s00439-002-0761-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12189489">Yorifuji et al. (2002)</a> detected a frequency of patients with propionic acidemia (<a href="/entry/606054">606054</a>) more than 10 times higher than previously reported, most of them with mild phenotypes. The mutation spectrum was quite different from that of patients with the severe form and there was a common tyr435-to-cys (Y435C) mutation in the beta subunit of the PCC gene. Since patients with the mild form can present with unusual symptoms and therefore easily remain unrecognized, <a href="#28" class="mim-tip-reference" title="Yorifuji, T., Kawai, M., Muroi, J., Mamada, M., Kurokawa, K., Shigematsu, Y., Hirano, S., Sakura, N., Yoshida, I., Kuhara, T., Endo, F., Mitsubuchi, H., Nakahata, T. <strong>Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.</strong> Hum. Genet. 111: 161-165, 2002. Note: Erratum: Hum. Genet. 112: 100 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12189489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12189489</a>] [<a href="https://doi.org/10.1007/s00439-002-0761-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12189489">Yorifuji et al. (2002)</a> emphasized the importance of identifying those patients and clarifying their natural history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12189489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 PROPIONIC ACIDEMIA</strong>
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PCCB, IVS6, A-G, +462
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1576327011 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1576327011;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1576327011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1576327011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012799" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012799" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012799</a>
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<p>In a PCCB-deficient (<a href="/entry/606054">606054</a>) patient, <a href="#18" class="mim-tip-reference" title="Rincon, A., Aguado, C., Desviat, L. R., Sanchez-Alcudia, R., Ugarte, M., Perez, B. <strong>Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.</strong> Am. J. Hum. Genet. 81: 1262-1270, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17966092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17966092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17966092[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/522376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17966092">Rincon et al. (2007)</a> identified a 72-bp insertion between exons 6 and 7 in PCCB mRNA (654ins72) in homozygous state, corresponding to an intron 6 region resembling an exon with 3-prime and 5-prime splice sites with high splicing scores. Direct sequencing of the genomic region identified an A-to-G substitution at position +5 relative to the inserted sequence (IVS6+462A-G), increasing the cryptic 5-prime donor splicing score. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17966092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Chloupkova2002" class="mim-anchor"></a>
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Chloupkova, M., Maclean, K. N., Alkhateeb, A., Kraus, J. P.
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<strong>Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.</strong>
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Hum. Mutat. 19: 629-640, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12007220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12007220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12007220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.10085" target="_blank">Full Text</a>]
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<a id="Desviat2006" class="mim-anchor"></a>
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Desviat, L. R., Clavero, S., Perez-Cerda, C., Navarrete, R., Ugarte, M., Perez, B.
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<strong>New splicing mutations in propionic acidemia.</strong>
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J. Hum. Genet. 51: 992-997, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17051315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17051315</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17051315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10038-006-0068-3" target="_blank">Full Text</a>]
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<a id="Fenton2001" class="mim-anchor"></a>
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Fenton, W. A., Gravel, R. A., Rosenblatt, D. S.
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<strong>Disorders of propionate and methylmalonate metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
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New York: McGraw-Hill (pub.) 2001. P. 2176.
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<a id="Gravel1994" class="mim-anchor"></a>
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Gravel, R. A., Akerman, B. R., Lamhonwah, A.-M., Loyer, M., Leon-del-Rio, A., Italiano, I.
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<strong>Mutations participating in interallelic complementation in propionic acidemia.</strong>
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Am. J. Hum. Genet. 55: 51-58, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8023851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8023851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8023851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Gravel1977" class="mim-anchor"></a>
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Gravel, R. A., Lam, K.-F., Scully, K. J., Hsia, Y. E.
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<strong>Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.</strong>
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Am. J. Hum. Genet. 29: 378-388, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/195466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">195466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=195466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Kidd1980" class="mim-anchor"></a>
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Kidd, J. R., Wolf, B., Hsia, Y. E., Kidd, K. K.
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<strong>Genetics of propionic acidemia in a Mennonite-Amish kindred.</strong>
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Am. J. Hum. Genet. 32: 236-245, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7386459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7386459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7386459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Lamhonwah1986" class="mim-anchor"></a>
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Lamhonwah, A.-M., Barankiewicz, T. J., Willard, H. F., Mahuran, D. J., Quan, F., Gravel, R. A.
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<strong>Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.</strong>
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Proc. Nat. Acad. Sci. 83: 4864-4868, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460076</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3460076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.83.13.4864" target="_blank">Full Text</a>]
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<a id="Lamhonwah1987" class="mim-anchor"></a>
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<div class="">
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Lamhonwah, A.-M., Gravel, R. A.
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<strong>Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.</strong>
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Am. J. Hum. Genet. 41: 1124-1131, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3687944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3687944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3687944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Lamhonwah1994" class="mim-anchor"></a>
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Lamhonwah, A.-M., Leclerc, D., Loyer, M., Clarizio, R., Gravel, R. A.
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<strong>Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta-subunit.</strong>
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Genomics 19: 500-505, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1099" target="_blank">Full Text</a>]
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Lamhonwah, A.-M., Troxel, C. E., Schuster, S., Gravel, R. A.
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<strong>Two distinct mutations at the same site in the PCCB gene in propionicacidemia.</strong>
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Genomics 8: 249-254, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2249848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2249848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2249848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90279-4" target="_blank">Full Text</a>]
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<a id="Lamhonwah1989" class="mim-anchor"></a>
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Lamhonwah, A.-M., Troxel, C., Schuster, S., Gravel, R. A.
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<strong>Molecular basis of intragenic complementation in propionicacidemia: identification of mutations in the pccC complementation group. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A8 only, 1989.
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Levy, E. R., Rack, K., Buckle, V. J.
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<strong>Refined localization of PCCB to 3q21-q22. (Abstract)</strong>
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Cytogenet. Cell Genet. 58: 1878 only, 1991.
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Muro, S., Perez-Cerda, C., Rodriguez-Pombo, P., Perez, B., Briones, P., Ribes, A., Ugarte, M.
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<strong>Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.</strong>
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J. Med. Genet. 36: 412-414, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10353789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10353789</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10353789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Ohura1991" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ohura, T., Miyabayashi, S., Narisawa, K., Tada, K.
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<strong>Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.</strong>
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[<a href="https://doi.org/10.1007/BF01213089" target="_blank">Full Text</a>]
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<a id="Ohura1993" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ohura, T., Narisawa, K., Tada, K.
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<strong>Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.</strong>
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[<a href="https://doi.org/10.1007/BF00714279" target="_blank">Full Text</a>]
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<a id="Ohura1993" class="mim-anchor"></a>
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<div class="">
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Ohura, T., Ogasawara, M., Ikeda, H., Narisawa, K., Tada, K.
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<strong>The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.</strong>
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Hum. Genet. 92: 397-402, 1993.
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[<a href="https://doi.org/10.1007/BF01247343" target="_blank">Full Text</a>]
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Ravn, K., Chloupkova, M., Christensen, E., Brandt, N. J., Simonsen, H., Kraus, J. P., Nielsen, I. M., Skovby, F., Schwartz, M.
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<strong>High incidence of propionic acidemia in Greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.</strong>
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Am. J. Hum. Genet. 67: 203-206, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 270 only, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10820128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10820128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10820128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302971" target="_blank">Full Text</a>]
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<a id="Rincon2007" class="mim-anchor"></a>
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Rincon, A., Aguado, C., Desviat, L. R., Sanchez-Alcudia, R., Ugarte, M., Perez, B.
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<strong>Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17966092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17966092</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17966092[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17966092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/522376" target="_blank">Full Text</a>]
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<a id="Rodriguez-Pombo1998" class="mim-anchor"></a>
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Rodriguez-Pombo, P., Hoenicka, J., Muro, S., Perez, B., Perez-Cerda, C., Richard, E., Desviat, L. R., Ugarte, M.
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<strong>Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.</strong>
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Am. J. Hum. Genet. 63: 360-369, 1998.
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[<a href="https://doi.org/10.1086/301970" target="_blank">Full Text</a>]
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<a id="Saunders1979" class="mim-anchor"></a>
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Saunders, M., Sweetman, L., Robinson, B., Roth, K., Cohn, R., Gravel, R. A.
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<strong>Biotin-response organicaciduria: multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.</strong>
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J. Clin. Invest. 64: 1695-1702, 1979.
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[<a href="https://doi.org/10.1172/JCI109632" target="_blank">Full Text</a>]
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<a id="Tahara1993" class="mim-anchor"></a>
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Tahara, T., Kraus, J. P., Ohura, T., Rosenberg, L. E., Fenton, W. A.
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<strong>Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.</strong>
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J. Inherit. Metab. Dis. 16: 353-360, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8411997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8411997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8411997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00710282" target="_blank">Full Text</a>]
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Tahara, T., Kraus, J. P., Rosenberg, L. E.
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<strong>An unusual insertion/deletion in the gene for the beta-subunit of propionyl CoA carboxylase: a common mutation in propionic acidemia. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A222 only, 1989.
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<a id="Tahara1990" class="mim-anchor"></a>
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Tahara, T., Kraus, J. P., Rosenberg, L. E.
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<strong>An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.</strong>
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Proc. Nat. Acad. Sci. 87: 1372-1376, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2154743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2154743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2154743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.87.4.1372" target="_blank">Full Text</a>]
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<a id="Ugarte1999" class="mim-anchor"></a>
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Ugarte, M., Perez-Cerda, C., Rodriguez-Pombo, P., Desviat, L. R., Perez, B., Richard, E., Muro, S., Campeau, E., Ohura, T., Gravel, R. A.
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<strong>Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.</strong>
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Hum. Mutat. 14: 275-282, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10502773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10502773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10502773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N" target="_blank">Full Text</a>]
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Waye, J. S., Gravel, R. A., Willard, H. F.
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<strong>Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3.</strong>
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Nucleic Acids Res. 16: 2362 only, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2895916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/16.5.2362" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Wolf1978" class="mim-anchor"></a>
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Wolf, B., Rosenberg, L. E.
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<strong>Heterozygote expression in propionyl coenzyme A carboxylase deficiency: differences between major complementation groups.</strong>
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J. Clin. Invest. 62: 931-936, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/711858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">711858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=711858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI109221" target="_blank">Full Text</a>]
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<div class="">
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Yang-Feng, T. L., Kraus, J. P., Francke, U.
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<strong>Gene for the beta-subunit of propionyl CoA carboxylase (PCCB) is located on the long arm of human chromosome 3 (3q13.3-q22). (Abstract)</strong>
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Cytogenet. Cell Genet. 40: 783 only, 1985.
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<a id="28" class="mim-anchor"></a>
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<a id="Yorifuji2002" class="mim-anchor"></a>
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<div class="">
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Yorifuji, T., Kawai, M., Muroi, J., Mamada, M., Kurokawa, K., Shigematsu, Y., Hirano, S., Sakura, N., Yoshida, I., Kuhara, T., Endo, F., Mitsubuchi, H., Nakahata, T.
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<strong>Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.</strong>
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Hum. Genet. 111: 161-165, 2002. Note: Erratum: Hum. Genet. 112: 100 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12189489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12189489</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12189489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-002-0761-z" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 11/28/2007
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/16/2007<br>Victor A. McKusick - updated : 10/2/2002<br>Victor A. McKusick - updated : 6/14/2002<br>Ada Hamosh - reorganized : 6/22/2001<br>Victor A. McKusick - updated : 9/5/2000<br>Wilson H. Y. Lo - updated : 11/17/1999<br>Michael J. Wright - updated : 7/12/1999<br>Victor A. McKusick - updated : 9/11/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/24/1986
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carol : 11/11/2024
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/26/2020<br>carol : 02/25/2020<br>carol : 07/15/2016<br>carol : 7/9/2016<br>terry : 9/4/2012<br>alopez : 12/11/2007<br>terry : 11/28/2007<br>wwang : 4/2/2007<br>ckniffin : 3/16/2007<br>terry : 4/6/2005<br>tkritzer : 10/10/2002<br>tkritzer : 10/4/2002<br>terry : 10/2/2002<br>cwells : 6/18/2002<br>terry : 6/14/2002<br>mcapotos : 12/21/2001<br>carol : 9/10/2001<br>carol : 6/22/2001<br>mcapotos : 9/27/2000<br>mcapotos : 9/19/2000<br>terry : 9/5/2000<br>carol : 11/22/1999<br>carol : 11/17/1999<br>jlewis : 7/23/1999<br>jlewis : 7/19/1999<br>terry : 7/12/1999<br>carol : 9/16/1998<br>terry : 9/11/1998<br>terry : 9/11/1998<br>terry : 9/11/1998<br>terry : 6/4/1998<br>terry : 8/30/1994<br>mimadm : 4/8/1994<br>carol : 3/14/1994<br>carol : 12/20/1993<br>carol : 9/23/1993<br>carol : 9/13/1993
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</span>
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</div>
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</div>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 232050
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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pccBC COMPLEMENTATION GROUP
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PCCB</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 69080001;
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<strong>ICD10CM:</strong> E71.121;
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3q22.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:136,250,340-136,330,169 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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3q22.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Propionicacidemia
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</span>
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</td>
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<td>
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<span class="mim-font">
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606054
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids. Propionyl-CoA carboxylase (PCC), composed of alpha and beta subunits, catalyzes the first step in the catabolism of propionyl-CoA. The alpha subunit is encoded by the PCCA gene (232000) and the beta subunit by the PCCB gene. Cells from patients with propionic acidemia (606054) who have mutations in the PCCB gene fall into 2 complementation subgroups, pccB and pccC. Mutations in the pccB subgroup occur in the N terminus of the beta subunit, which includes the biotin-binding site, whereas mutations in the pccC subgroup occur in the C terminus (summary by Fenton et al., 2001).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lamhonwah et al. (1994) cloned a full-length cDNA encoding the beta subunit of human PCC. The open reading frame encoded a pre-beta polypeptide of 539 amino acids (58,205 Da). The cDNA was introduced into an expression vector and microinjected into the nucleus or, as ribotranscripts, into the cytoplasm of fibroblast lines from propionic acidemia patients with defects of the beta subunit. Restoration of function was demonstrated by autoradiography of PCC-dependent (14)C-propionate incorporation into cellular protein. These results confirmed the completeness of the clone and demonstrated the capacity for the microinjected material to be transported into mitochondria and assembled with endogenously derived alpha subunits to form functional PCC. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rodriguez-Pombo et al. (1998) described the genomic organization of the coding sequence of the human PCCB gene. The PCCB gene consists of 15 exons of 57 to 183 bp. All splice sites are consistent with the gt/ag rule. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Yang-Feng et al. (1985) used rat cDNA probes to assign the human PCCB gene to 3q13.3-q22 by in situ hybridization and corroborated the assignment to chromosome 3 by Southern blot analysis of somatic cell hybrid DNAs. Assignment of PCCB to chromosome 3 was also reported by Lamhonwah et al. (1986). Levy et al. (1991) refined the localization of the PCCB gene to 3q21-q22 by demonstrating the loss of a polymorphic band in a clonal population of blast cells from an individual suffering from myelodysplastic syndrome who had been found to have an interstitial deletion of 3q21-q25. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Two main complementation groups for propionyl-CoA carboxylase deficiency were demonstrated by Gravel et al. (1977) in studies of Sendai virus-induced heterokaryons of mutant fibroblast strains. Three of 7 strains studied fell into a first group. The second group, composed of 4 mutants, was a complex one with intragroup complementation. The complementation groups could not be correlated with patterns of clinical heterogeneity. Although Gravel et al. (1977) referred to the 2 types as pccA and pccC, they are now referred to as pccB and pccC. In a study of heterozygotes from families of the 2 types, Wolf and Rosenberg (1978) found the expected half-normal level of PCC in type B heterozygotes, whereas type C heterozygotes showed normal levels of the enzyme. </p><p>Kidd et al. (1980) studied propionic acidemia of the pccC type in 4 Amish sibships. Three ancestral couples were shared in common by all 8 parents. The authors calculated that the relative likelihoods of the 3 couples as the origin of the mutant allele were 1,539, 278, and 1. The highest relative likelihood was for Jacob Hochstetler and his wife, nee Lorenz. The first symptoms generally appeared in infancy and included vomiting, lethargy, hypotonia, and failure to thrive. Exacerbations can be produced by increased protein intake or acute infection and are characterized by ketoacidosis, hyperglycinemia, hyperglycinuria, and hyperammonemia. Although affected persons who are not placed on protein-restricted diets were thought to develop mental retardation and seizures and die early, experience in the Amish indicates that a milder course may occur. Relatively late onset of symptoms may be related to breast-feeding; breast milk has a lower protein content than formulas or cow's milk. </p><p>Using cDNA clones coding for the alpha and beta chains as probes, Lamhonwah and Gravel (1987) found absence of alpha mRNA in 4 of 6 pccA strains and presence of both alpha and beta mRNAs in 3 pccBC, 2 pccB, and 3 pccC mutants. Their data supported the view that pccA patients synthesize a normal beta chain that is rapidly degraded in the absence of complexing with alpha chains. Waye et al. (1988) described 2 RFLPs in the PCCB gene. Lamhonwah et al. (1989, 1990) provided evidence in support of their hypothesis that intragenic complementation of subgroups pccB and pccC (Saunders et al., 1979) is due to the fact that patients from the pccC subgroup produce enzymatically active but unstable beta subunits which are capable of complementing enzymatically inactive pccB subunits in fibroblast fusion experiments. In a patient from the pccC complementation group whose DNA was examined by direct sequencing of PCR-amplified reverse transcripts of mRNA and amplified genomic DNA, one mutation inherited from the father was an in-frame 3-bp deletion that removed an amino acid in the beta subunit. The second mutation, inherited from the mother, was a deletion of 14 bp and an addition of 12 bp of new sequence. The net effect of the mother's mutation was generation of the frameshift and a downstream stop codon, consistent with the finding of only the father's sequence in the patient's mRNA. The father's mutation, compatible with successful mRNA and protein synthesis, was apparently responsible for the synthesis of a beta subunit that participated in the intragenic complementation with the pccB group. </p><p>Tahara et al. (1989) found an unusual mutation of the PCCB gene in 3 BC and 5 of 9 C patients: a unique insertion/deletion replacing 14 bp in the control with 12 bp of unrelated sequence in the mutants. Tahara et al. (1990) pointed out that the mutation results in elimination of an MspI restriction site, a 2-bp deletion, a frameshift, and a stop codon in the new frame about 100 amino acid residues proximal to the normal carboxyl terminus. This unique mutation was found in 8 of 28 mutant alleles carried by 14 unrelated Caucasian patients. Hybridization studies with amplified genomic DNAs using a mutant allele-specific oligonucleotide showed that the inserted 12 bp did not originate in a 1-kb region around the mutation. In the course of their studies, Tahara et al. (1990) identified another mutation in the same exon: a 3-bp in-frame deletion that eliminated 1 of 2 isoleucine codons immediately preceding the MspI site. Two unrelated patients were compound heterozygotes for this single-codon deletion and for the insertion/deletion described above. In 3 of 8 Japanese patients with defects in the beta subunit, Ohura et al. (1991) found a unique 2.7-kb band by probing DNA digested with MspI using PCCB cDNA. </p><p>Gravel et al. (1994) defined mutations that are involved in interallelic complementation and showed that they are located in domains that can interact between beta subunits in the PCC heteromer to restore enzymatic function. On the basis of sequence homology with the Propionibacterium shermanii transcarboxylase 12S subunit, they suggested that the pccC domain, defined by ile408 and arg410, may involve the propionyl-CoA binding site. </p><p>Rodriguez-Pombo et al. (1998) characterized mutations causing propionic acidemia in 29 unrelated patients, 21 from Spain and 8 from Latin America. The mutation was defined in 56 of the 58 mutant chromosomes of the 29 unrelated patients, with detection of 16 different mutations. The mutation spectrum included 1 insertion/deletion, 2 insertions, 10 missense mutations, 1 nonsense mutation, and 2 splicing defects. Thirteen of these mutations had not previously been described. The mutation profile found in the chromosomes from Latin American patients basically resembled that of the Spanish patients. </p><p>Ugarte et al. (1999) reviewed mutations in the PCCA and PCCB genes. A total of 29 mutations had been reported in the PCCB gene, mostly missense mutations and a variety of splicing defects. Among Caucasians, 1218del14ins12 (232050.0003) is the most frequent, although 1170insT (232050.0004) and E168K (232050.0005) are also prevalent specifically in the Spanish and Latin American populations. In Japanese, T428I (232050.0006) and R410W (232050.0001) appear to be the most common. </p><p>Muro et al. (1999) reported prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue in a family where the proband had previously been shown to carry the 1170insT mutation (232050.0004) and a private leu519-to-pro (L519P) mutation in the PCCB gene. Muro et al. (1999) also assessed carrier status in this family by DNA analysis. </p><p>Chloupkova et al. (2002) characterized 13 mutations in the PCCB gene associated with propionic acidemia. They found a functional dichotomy with 7 mutations capable of varying degrees of assembly but forming catalytically inactive PCC proteins. Other PCCB mutants that were PCC-deficient in patient-derived fibroblasts were found to be capable of expressing wildtype level PCC activity when assembled in a chaperone-assisted E. coli expression system. The result indicated that these mutations exert their pathogenic effect due to an inability to assemble correctly in patients' cells. </p><p>Among 10 patients with propionic acidemia, Desviat et al. (2006) identified 4 different PCCA splice site mutations and 3 different PCCB splice site mutations. The authors emphasized the different molecular effects of splicing mutations and the possible phenotypic consequences. </p><p>In cultured cells, Rincon et al. (2007) used antisense morpholino oligonucleotides (AMOs) to restore normal splicing caused by intronic molecular defects in methylmalonic acidemia (251000) and propionic acidemia (606054). One of the insertions studied involved the PCCB gene (see 232050.0009). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PROPIONIC ACIDEMIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PCCB, ARG412TRP
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<br />
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SNP: rs121964959,
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gnomAD: rs121964959,
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ClinVar: RCV000012791, RCV004589508
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Tahara et al. (1993) identified a C-to-T transition at nucleotide 1240, which replaced arg412 with tryptophan in the predicted amino acid sequence. This change was found in 3 patients with propionic acidemia (606054), all Japanese, of whom 2 were sibs; all were homozygous for the transition. The mutation was in the same exon as the insertion/deletion described by Tahara et al. (1990) and was detected only in Caucasian patients, among whom it represented 11 of 34 mutant alleles. (This mutation was described as a C-to-T transition at nucleotide 1228 in exon 12, causing an ARG410TRP substitution, by Ugarte et al. (1999).) </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 PROPIONIC ACIDEMIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PCCB, 8-BP DEL, NT3
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<br />
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ClinVar: RCV000012792
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese patient with propionic acidemia (606054), Ohura et al. (1993) found deletion of 101 bp between nucleotides 1199 and 1299 of the mRNA. Analysis of PCR products of genomic DNA showed an 8-bp deletion that started with the third base of the intron and extended downstream of the deleted exon. The 5-prime and 3-prime splice junctions of the preceding intron and the 3-prime splice signal of the following intron were normal. The deletion of nucleotides 3-10 resulted in skipping of the preceding intron. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 PROPIONIC ACIDEMIA</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PCCB, 14-BP DEL, 12-BP INS, NT1218
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<br />
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SNP: rs397507445,
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ClinVar: RCV000032124, RCV000370248, RCV002513290, RCV003398582
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Rodriguez-Pombo et al. (1998) found that the most frequent mutation causing PCCB deficiency (606054) in Spain and Latin America was an insertion/deletion of 12 bp and 14 bp following nucleotide 1218 (c.1218del14ins12). This mutation accounted for 31% of the alleles from Spanish patients and 47% of the alleles from Latin American patients. The ins/del caused a frameshift and a premature stop codon in the coding sequence. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 PROPIONIC ACIDEMIA</strong>
|
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</span>
|
|
</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
PCCB, 1-BP INS, 1170T
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<br />
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|
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SNP: rs587776758,
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|
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|
|
|
|
|
ClinVar: RCV000012794, RCV001576958
|
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|
|
|
|
</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>Rodriguez-Pombo et al. (1998) found that the second most frequent mutation in patients with propionic acidemia (606054) in Spain, accounting for 16.7% of mutant PCCB alleles, was insertion of a thymine after nucleotide 1170 of the cDNA. This mutation was found in a Chilean patient in the Latin American group (frequency 6%). </p>
|
|
</span>
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</div>
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<div>
|
|
<br />
|
|
</div>
|
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|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 PROPIONIC ACIDEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
PCCB, GLU168LYS
|
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<br />
|
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|
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SNP: rs121964960,
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|
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gnomAD: rs121964960,
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|
|
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ClinVar: RCV000012795
|
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 14.3% of the mutant alleles of Spanish patients with propionic acidemia (606054) and in 25% of the mutant alleles of Latin American patients, Rodriguez-Pombo et al. (1998) found a G-to-A transition at nucleotide 502 of the PCCB gene, resulting in a glu168-to-lys amino acid substitution. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 PROPIONIC ACIDEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PCCB, THR428ILE
|
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|
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<br />
|
|
|
|
SNP: rs111033542,
|
|
|
|
|
|
gnomAD: rs111033542,
|
|
|
|
|
|
ClinVar: RCV000012796
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In Japanese patients with propionic acidemia (606054), Ohura et al. (1993) identified a 1283C-T change in the PCCB gene, resulting in a thr428-to-ile substitution. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 PROPIONIC ACIDEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PCCB, 3-BP INS, 1540CCC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs202247821,
|
|
|
|
|
|
|
|
ClinVar: RCV000012797
|
|
|
|
|
|
</span>
|
|
</div>
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Propionic acidemia (606054) has a high prevalence among Inuits in Greenland. Ravn et al. (2000) found a 3-bp insertion, 1540insCCC, in homozygous form in 3 patients and in compound heterozygous form in 1 patient. They found a carrier frequency of 5% for the heterozygous state in the Greenlandic Inuit population. Analysis of alleles of a closely linked marker, D3S2453, showed a high degree of linkage disequilibrium with one specific allele, suggesting that this was a founder mutation. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 PROPIONIC ACIDEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
PCCB, TYR435CYS
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs121964961,
|
|
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|
|
|
gnomAD: rs121964961,
|
|
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|
|
|
ClinVar: RCV000012798
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a neonatal screen of more than 130,000 Japanese newborns, Yorifuji et al. (2002) detected a frequency of patients with propionic acidemia (606054) more than 10 times higher than previously reported, most of them with mild phenotypes. The mutation spectrum was quite different from that of patients with the severe form and there was a common tyr435-to-cys (Y435C) mutation in the beta subunit of the PCC gene. Since patients with the mild form can present with unusual symptoms and therefore easily remain unrecognized, Yorifuji et al. (2002) emphasized the importance of identifying those patients and clarifying their natural history. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PROPIONIC ACIDEMIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PCCB, IVS6, A-G, +462
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1576327011,
|
|
|
|
|
|
|
|
ClinVar: RCV000012799
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a PCCB-deficient (606054) patient, Rincon et al. (2007) identified a 72-bp insertion between exons 6 and 7 in PCCB mRNA (654ins72) in homozygous state, corresponding to an intron 6 region resembling an exon with 3-prime and 5-prime splice sites with high splicing scores. Direct sequencing of the genomic region identified an A-to-G substitution at position +5 relative to the inserted sequence (IVS6+462A-G), increasing the cryptic 5-prime donor splicing score. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chloupkova, M., Maclean, K. N., Alkhateeb, A., Kraus, J. P.
|
|
<strong>Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.</strong>
|
|
Hum. Mutat. 19: 629-640, 2002.
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|
|
|
|
|
[PubMed: 12007220]
|
|
|
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|
|
[Full Text: https://doi.org/10.1002/humu.10085]
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|
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</p>
|
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Desviat, L. R., Clavero, S., Perez-Cerda, C., Navarrete, R., Ugarte, M., Perez, B.
|
|
<strong>New splicing mutations in propionic acidemia.</strong>
|
|
J. Hum. Genet. 51: 992-997, 2006.
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[PubMed: 17051315]
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[Full Text: https://doi.org/10.1007/s10038-006-0068-3]
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|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Fenton, W. A., Gravel, R. A., Rosenblatt, D. S.
|
|
<strong>Disorders of propionate and methylmalonate metabolism.In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.) : The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. P. 2176.
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|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gravel, R. A., Akerman, B. R., Lamhonwah, A.-M., Loyer, M., Leon-del-Rio, A., Italiano, I.
|
|
<strong>Mutations participating in interallelic complementation in propionic acidemia.</strong>
|
|
Am. J. Hum. Genet. 55: 51-58, 1994.
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[PubMed: 8023851]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gravel, R. A., Lam, K.-F., Scully, K. J., Hsia, Y. E.
|
|
<strong>Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.</strong>
|
|
Am. J. Hum. Genet. 29: 378-388, 1977.
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[PubMed: 195466]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kidd, J. R., Wolf, B., Hsia, Y. E., Kidd, K. K.
|
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<strong>Genetics of propionic acidemia in a Mennonite-Amish kindred.</strong>
|
|
Am. J. Hum. Genet. 32: 236-245, 1980.
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[PubMed: 7386459]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lamhonwah, A.-M., Barankiewicz, T. J., Willard, H. F., Mahuran, D. J., Quan, F., Gravel, R. A.
|
|
<strong>Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.</strong>
|
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Proc. Nat. Acad. Sci. 83: 4864-4868, 1986.
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[PubMed: 3460076]
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[Full Text: https://doi.org/10.1073/pnas.83.13.4864]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Lamhonwah, A.-M., Gravel, R. A.
|
|
<strong>Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.</strong>
|
|
Am. J. Hum. Genet. 41: 1124-1131, 1987.
|
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|
|
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[PubMed: 3687944]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lamhonwah, A.-M., Leclerc, D., Loyer, M., Clarizio, R., Gravel, R. A.
|
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<strong>Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta-subunit.</strong>
|
|
Genomics 19: 500-505, 1994.
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|
|
[PubMed: 8188292]
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[Full Text: https://doi.org/10.1006/geno.1994.1099]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lamhonwah, A.-M., Troxel, C. E., Schuster, S., Gravel, R. A.
|
|
<strong>Two distinct mutations at the same site in the PCCB gene in propionicacidemia.</strong>
|
|
Genomics 8: 249-254, 1990.
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|
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[PubMed: 2249848]
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[Full Text: https://doi.org/10.1016/0888-7543(90)90279-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lamhonwah, A.-M., Troxel, C., Schuster, S., Gravel, R. A.
|
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<strong>Molecular basis of intragenic complementation in propionicacidemia: identification of mutations in the pccC complementation group. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A8 only, 1989.
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|
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Levy, E. R., Rack, K., Buckle, V. J.
|
|
<strong>Refined localization of PCCB to 3q21-q22. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1878 only, 1991.
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|
|
|
</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Muro, S., Perez-Cerda, C., Rodriguez-Pombo, P., Perez, B., Briones, P., Ribes, A., Ugarte, M.
|
|
<strong>Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.</strong>
|
|
J. Med. Genet. 36: 412-414, 1999.
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|
|
|
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[PubMed: 10353789]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ohura, T., Miyabayashi, S., Narisawa, K., Tada, K.
|
|
<strong>Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.</strong>
|
|
Hum. Genet. 87: 41-44, 1991.
|
|
|
|
|
|
[PubMed: 2037281]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01213089]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ohura, T., Narisawa, K., Tada, K.
|
|
<strong>Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.</strong>
|
|
J. Inherit. Metab. Dis. 16: 863-867, 1993.
|
|
|
|
|
|
[PubMed: 8295402]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00714279]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ohura, T., Ogasawara, M., Ikeda, H., Narisawa, K., Tada, K.
|
|
<strong>The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.</strong>
|
|
Hum. Genet. 92: 397-402, 1993.
|
|
|
|
|
|
[PubMed: 8225321]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01247343]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ravn, K., Chloupkova, M., Christensen, E., Brandt, N. J., Simonsen, H., Kraus, J. P., Nielsen, I. M., Skovby, F., Schwartz, M.
|
|
<strong>High incidence of propionic acidemia in Greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.</strong>
|
|
Am. J. Hum. Genet. 67: 203-206, 2000. Note: Erratum: Am. J. Hum. Genet. 67: 270 only, 2000.
|
|
|
|
|
|
[PubMed: 10820128]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302971]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rincon, A., Aguado, C., Desviat, L. R., Sanchez-Alcudia, R., Ugarte, M., Perez, B.
|
|
<strong>Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.</strong>
|
|
Am. J. Hum. Genet. 81: 1262-1270, 2007.
|
|
|
|
|
|
[PubMed: 17966092]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/522376]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rodriguez-Pombo, P., Hoenicka, J., Muro, S., Perez, B., Perez-Cerda, C., Richard, E., Desviat, L. R., Ugarte, M.
|
|
<strong>Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.</strong>
|
|
Am. J. Hum. Genet. 63: 360-369, 1998.
|
|
|
|
|
|
[PubMed: 9683601]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301970]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saunders, M., Sweetman, L., Robinson, B., Roth, K., Cohn, R., Gravel, R. A.
|
|
<strong>Biotin-response organicaciduria: multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.</strong>
|
|
J. Clin. Invest. 64: 1695-1702, 1979.
|
|
|
|
|
|
[PubMed: 115903]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI109632]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tahara, T., Kraus, J. P., Ohura, T., Rosenberg, L. E., Fenton, W. A.
|
|
<strong>Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.</strong>
|
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</li>
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<p class="mim-text-font">
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Tahara, T., Kraus, J. P., Rosenberg, L. E.
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<strong>An unusual insertion/deletion in the gene for the beta-subunit of propionyl CoA carboxylase: a common mutation in propionic acidemia. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A222 only, 1989.
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</p>
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<p class="mim-text-font">
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Tahara, T., Kraus, J. P., Rosenberg, L. E.
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<strong>An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.</strong>
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Proc. Nat. Acad. Sci. 87: 1372-1376, 1990.
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[PubMed: 2154743]
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[Full Text: https://doi.org/10.1073/pnas.87.4.1372]
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Ugarte, M., Perez-Cerda, C., Rodriguez-Pombo, P., Desviat, L. R., Perez, B., Richard, E., Muro, S., Campeau, E., Ohura, T., Gravel, R. A.
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<strong>Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.</strong>
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Hum. Mutat. 14: 275-282, 1999.
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N]
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<p class="mim-text-font">
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Waye, J. S., Gravel, R. A., Willard, H. F.
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<strong>Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3.</strong>
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Nucleic Acids Res. 16: 2362 only, 1988.
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[PubMed: 2895916]
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[Full Text: https://doi.org/10.1093/nar/16.5.2362]
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<li>
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<p class="mim-text-font">
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Wolf, B., Rosenberg, L. E.
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<strong>Heterozygote expression in propionyl coenzyme A carboxylase deficiency: differences between major complementation groups.</strong>
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J. Clin. Invest. 62: 931-936, 1978.
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<p class="mim-text-font">
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Yang-Feng, T. L., Kraus, J. P., Francke, U.
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<strong>Gene for the beta-subunit of propionyl CoA carboxylase (PCCB) is located on the long arm of human chromosome 3 (3q13.3-q22). (Abstract)</strong>
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Cytogenet. Cell Genet. 40: 783 only, 1985.
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<li>
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<p class="mim-text-font">
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Yorifuji, T., Kawai, M., Muroi, J., Mamada, M., Kurokawa, K., Shigematsu, Y., Hirano, S., Sakura, N., Yoshida, I., Kuhara, T., Endo, F., Mitsubuchi, H., Nakahata, T.
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<strong>Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.</strong>
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Hum. Genet. 111: 161-165, 2002. Note: Erratum: Hum. Genet. 112: 100 only, 2003.
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[PubMed: 12189489]
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[Full Text: https://doi.org/10.1007/s00439-002-0761-z]
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Victor A. McKusick - updated : 11/28/2007<br>Cassandra L. Kniffin - updated : 3/16/2007<br>Victor A. McKusick - updated : 10/2/2002<br>Victor A. McKusick - updated : 6/14/2002<br>Ada Hamosh - reorganized : 6/22/2001<br>Victor A. McKusick - updated : 9/5/2000<br>Wilson H. Y. Lo - updated : 11/17/1999<br>Michael J. Wright - updated : 7/12/1999<br>Victor A. McKusick - updated : 9/11/1998
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Victor A. McKusick : 6/24/1986
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